Focus group discussions on secondary variants and next-generation sequencing technologies

European Journal of Medical Genetics

Volumn 58, Issue 4, 2015, Pages 249-257

  Christenhusz, Gabrielle M ^a   Devriendt, Koenraad ^a   Van Esch, Hilde ^a   Dierickx, Kris ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Children; Clinical genetics; Disclosure; Ethics; Incidental findings; Whole genome sequencing

Indexed keywords

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; ATTITUDE TO HEALTH; BEHAVIOR CHANGE; BREAST CANCER; CHILD PARENT RELATION; CLINICAL ARTICLE; CLINICAL GENETICS; CYSTIC FIBROSIS; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE TECHNOLOGY; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; GRANDPARENT; HEART ARRHYTHMIA; HUMAN; HUNTINGTON CHOREA; IMMIGRANT; INFORMATION PROCESSING; INTERPERSONAL COMMUNICATION; LIFESTYLE; MALE; MALE INFERTILITY; MEDICAL INFORMATION; MEDICAL LITERATURE; MEDICAL PRACTICE; NEXT GENERATION SEQUENCING; NON INSULIN DEPENDENT DIABETES MELLITUS; PRENATAL CARE; RESPONSIBILITY; ADOLESCENT; CHILD; DEVELOPMENTAL DISORDER; DNA SEQUENCE; FAMILY; HIGH THROUGHPUT SEQUENCING; INCIDENTAL FINDING; MEDICAL STAFF; MIDDLE AGED; PARENT; PRESCHOOL CHILD; PROCEDURES; PSYCHOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ATTITUDE TO HEALTH; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DISCLOSURE; FAMILY; FEMALE; FOCUS GROUPS; GRANDPARENTS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INCIDENTAL FINDINGS; MALE; MEDICAL STAFF; MIDDLE AGED; PARENTS; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84929049858     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.01.007     Document Type: Article

References (37)

1. Berg J.S., Khoury M.J., Evans J.P. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 2011, 13:499-504.
2. Borry P., Evers-Kiebooms G., Cornel M., Clarke A., Dierickx K., Cornel M., et al. Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur J Hum Genet 2009, 17:711-719.
3. Boycott K.M., Dyment D.A., Sawyer S.L., Vanstone M.R., Beaulieu C.L. Identification of genes for childhood heritable diseases. Annu Rev Med 2014, 65:19-31.
4. Brandt D.S., Shinkunas L., Hillis S.L., Daack-Hirsch S.E., Driessnack M., Downing N.R., et al. Acloser look at the recommended criteria for disclosing genetic results: perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs. JGenet Couns 2013, 22:544-553.
5. Choi M., Scholl U.I., Ji W., Liu T., Tikhonova I.R., Zumbo P., et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009, 106:19096-19101.
6. Christenhusz G.M., Devriendt K., Dierickx K. Secondary variants: in defense of a more fitting term in the incidental findings debate. Eur J Hum Genet 2013, 21:1331-1334.
7. Christenhusz G.M., Devriendt K., Dierickx K. To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet 2013, 21:248-255.
8. Christenhusz G.M., Devriendt K., Dierickx K. Disclosing incidental findings in genetics contexts: a review of the empirical ethical research. Eur J Med Genet 2013, 56:529-540.
9. Christenhusz G.M., Devriendt K., Peeters H., Van Esch H., Dierickx K. The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing. Clin Genet 2014, 86:207-216.
10. Clayton E.W., McCullough L.B., Biesecker L.G., Joffe S., Ross L.F., Wolf S.M. Addressing the ethical challenges in genetic testing and sequencing of children. Am J Bioeth 2014, 14:3-9. For the Clinical Sequencing Exploratory Research Consortium Pediatrics Working Group.
11. Driessnack M., Daack-Hirsch S., Downing N., Hanish A., Shah L.L., Alasagheirin M., et al. The disclosure of incidental genomic findings: an "ethically important moment" in pediatric research and practice. JCommunity Genet 2013, 4:435-444.
12. Evans J.P. Return of results to the families of children in genomic sequencing: tallying risks and benefits. Genet Med 2013, 15:435-436.
13. Green R.C., Berg J.S., Berry G.T., Biesecker L.G., Dimmock D.P., Evans J.P., et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 2012, 14:405-410.
14. Green R.C., Berg J.S., Grody W.W., Kalia S.S., Korf B.R., Martin C.L., et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013, 15:565-574.
15. Hayden E.C. Is the $1,000 genome for real?. Nat News 2014.
16. Hayeems R.Z., Miller F.A., Li L., Bytautas J.P. Not so simple: a quasi-experimental study of how researchers adjudicate genetic research results. Eur J Hum Genet 2011, 19:740-747.
17. Hens K., Nys H., Cassiman J., Dierickx K. The return of individual research findings in paediatric genetic research. JMed Ethics 2011, 37:179-183.
18. Hsieh H.-F., Shannon S.E. Three approaches to qualitative content analysis. Qual Health Res 2005, 15:1277-1288.
19. Hydén L.C., Bülow P.H. Who's talking: drawing conclusions from focus groups-some methodological considerations. Int J Soc Res Methodol 2003, 6:305-321.
20. Kitzinger J. Qualitative research. Introducing focus groups. Br Med J 1995, 311:299-302.
21. Kuczewski M.G. Reconceiving the family. The process of consent in medical decision making. Hastings Cent Rep 1996, 26:30-37.
22. Lemke A.A., Bick D., Dimmock D., Simpson P., Veith R. Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study. Clin Genet 2013, 84:230-236.
23. Levenseller B., Soucier D., Miller V., Harris D., Conway L., Bernhardt B. Stakeholders' opinions on the implementation of pediatric whole exome sequencing: Implications for informed consent. JGenet Couns 2013, 1-14.
24. Lohn Z., Adam S., Birch P., Townsend A., Friedman J. Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing. Am J Med Genet Part A 2013, 161:542-549.
25. Lupski J.R., Reid J.G., Gonzaga-Jauregui C., Rio Deiros D., Chen D.C., Nazareth L., et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. NEngl J Med 2010, 362:1181-1191.
26. Mardis E.R. The $1,000 genome, the $100,000 analysis?. Genome Med 2010, 2:84.
27. Morrison-Beedy D., CÔté-Arsenault D., Feinstein N.F. Maximizing results with focus groups: moderator and analysis issues. Appl Nurs Res 2001, 14:48-53.
28. Rabiee F. Focus-group interview and data analysis. Proc Nutr Soc 2004, 63:655-660.
29. Riessman C.K. Narrative analysis. Narrative, Memory and Everyday Life 2005, 1-7. University of Huddersfield, Huddersfield.
30. Robertson S., Savelescu J. Is there a case in favour of predictive genetic testing in young children?. Bioethics 2001, 15:26-49.
31. Rolland J.S. Family illness paradigms: evolution and significance. Fam Syst Med 1987, 5:482-502.
32. Rolland J.S., Williams J.K. Toward a biopsychosocial model for 21st-century genetics. Fam Process 2005, 44:3-24.
33. Smith C.P. Content analysis and narrative analysis. Handbook of Research Methods in Social and Personality Psychology 2000, 313-335. Cambridge University Press, Cambridge. H.T. Reis, C.M. Judd (Eds.).
34. Smithson J. Using and analysing focus groups: limitations and possibilities. Int J Soc Res Methodol 2000, 3:103-119.
35. Townsend A., Adam S., Birch P.H., Lohn Z., Rousseau F., Friedman J.M. "I want to know what's in Pandora's box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. Am J Med Genet Part A 2012, 158A:2519-2525.
36. Wolf S.M., Lawrenz F.P., Nelson C.A., Kahn J.P., Cho M.K., Clayton E.W., et al. Managing incidental findings in human subjects research: analysis and recommendations. JLaw Med Ethics 2008, 36:219-248.
37. Worthey E.A., Mayer A.N., Syverson G.D., Helbling D., Bonacci B.B., Decker B., et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011, 13:255-262.